Canonical Allele Identifier: CA21607214

Gene: MPL

Linked Data

• dbSNP Id: rs933394742
• gnomAD v4: 1-43338582-C-A
• MyVariant Identifiers: chr1:g.43804253C>A (hg19) ; chr1:g.43338582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338582C>A , CM000663.2:g.43338582C>A	GRCh38
NC_000001.10:g.43804253C>A , CM000663.1:g.43804253C>A	GRCh37
NC_000001.9:g.43576840C>A	NCBI36
NG_007525.1:g.5779C>A , LRG_510:g.5779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.253C>A MANE Select	ENSP00000361548.3:p.Pro85Thr
ENST00000413998.7:c.232C>A	ENSP00000414004.3:p.Pro78Thr
ENST00000638732.1:n.253C>A
ENST00000372470.7:c.253C>A	ENSP00000361548.3:p.Pro85Thr
ENST00000413998.6:c.253C>A	ENSP00000414004.2:p.Pro85Thr
ENST00000612993.1:c.253C>A	ENSP00000480273.1:p.Pro85Thr
NM_005373.2:c.253C>A , LRG_510t1:c.253C>A	NP_005364.1:p.Pro85Thr
XM_011541478.1:c.232C>A	XP_011539780.1:p.Pro78Thr
XM_017001320.1:c.424C>A	XP_016856809.1:p.Pro142Thr
NM_005373.3:c.253C>A MANE Select	NP_005364.1:p.Pro85Thr